Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-year old girl with EMARDD following identification of a novel homozygo...

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Detaylı Bibliyografya
Asıl Yazarlar: Pierson, Tyler Mark, Markello, Thomas, Accardi, John, Wolfe, Lynne, Adams, David, Sincan, Murat, Tarazi, Noor M., Fajardo, Karin Fuentes, Cherukuri, Praveen F., Bajraktari, Ilda, Meilleur, Katy G., Donkervoort, Sandra, Jain, Mina, Hu, Ying, Lehky, Tanya J., Cruz, Pedro, Mullikin, James C., Bonnemann, Carsten, Gahl, William A., Boerkoel, Cornelius F., Tifft, Cynthia J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2013
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3940074/
https://ncbi.nlm.nih.gov/pubmed/23453856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.01.013
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